ArticleHuman molecular genetics2018
Leveraging lung tissue transcriptome to uncover candidate causal genes in COPD genetic associations.
Article in Human molecular genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genome-wide association meta-analysis identifies pleiotropic risk loci for aerodigestive squamous cell cancers.PLoS genetics · 2021Pooled it
- Integrative genomics reveal genetic links of chronic cough with risk factors and brain regional volumes.ERJ open research · 2026Article
- A Cross-Tissue Transcriptome Association Study Revealed Novel Susceptibility Genes for Chronic Obstructive Pulmonary Disease.International journal of chronic obstructive pulmonary disease · 2026Article
- Proteomic Risk Score of Increased Respiratory Susceptibility: A Multicohort Study.American journal of respiratory and critical care medicine · 2025Article
- DNA Methylation-Mediated Downregulation ofInternational journal of chronic obstructive pulmonary disease · 2025Article
- Cross-tissue transcriptome-wide association identify novel T1D susceptibility genes and drug candidates.Frontiers in immunology · 2025Article
- Dysanapsis Genetic Risk Predicts Lung Function Across the Lifespan.American journal of respiratory and critical care medicine · 2024Article
- Unraveling Dysanapsis: Genetic Insights into Airway Lung Mismatch and COPD.American journal of respiratory and critical care medicine · 2024Article
- Colocalization analysis of 3' UTR alternative polyadenylation quantitative trait loci reveals novel mechanisms underlying associations with lung function.Human molecular genetics · 2024Article
- Breathing new life into the study of COPD with genes identified from genome-wide association studies.European respiratory review : an official journal of the European Respiratory Society · 2024Review
- Screening the Best Risk Model and Susceptibility SNPs for Chronic Obstructive Pulmonary Disease (COPD) Based on Machine Learning Algorithms.International journal of chronic obstructive pulmonary disease · 2024Article
- Colocalization of expression transcripts with COVID-19 outcomes is rare across cell states, cell types and organs.Human genetics · 2023Article
- Candidate pathway analysis of surfactant proteins identifies CTSH and SFTA2 that influences lung cancer risk.Human molecular genetics · 2023Article
- Novel insight into the aetiology of rheumatoid arthritis gained by a cross-tissue transcriptome-wide association study.RMD open · 2022Article
- Recent evidence from omic analysis for redox signalling and mitochondrial oxidative stress in COPD.Journal of inflammation (London, England) · 2022Review
- Genetics of chronic obstructive pulmonary disease: understanding the pathobiology and heterogeneity of a complex disorder.The Lancet. Respiratory medicine · 2022Review
- An evaluation of the National Institutes of Health grants portfolio: identifying opportunities and challenges for multi-omics research that leverage metabolomics data.Metabolomics : Official journal of the Metabolomic Society · 2022Review
- Multi-tissue transcriptome-wide association study identifies eight candidate genes and tissue-specific gene expression underlying endometrial cancer susceptibility.Communications biology · 2021Article
- Prioritization of candidate causal genes for asthma in susceptibility loci derived from UK Biobank.Communications biology · 2021Article
- On the cross-population generalizability of gene expression prediction models.PLoS genetics · 2020Article
Corrections and comments
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18 authors.
Funding
Abstract
Causal genes of chronic obstructive pulmonary disease (COPD) remain elusive. The current study aims at integrating genome-wide association studies (GWAS) and lung expression quantitative trait loci (eQTL) data to map COPD candidate causal genes and gain biological insights into the recently discovered COPD susceptibility loci. Two complementary genomic datasets on COPD were studied. First, the lung eQTL dataset which included whole-genome gene expression and genotyping data from 1038 individuals. Second, the largest COPD GWAS to date from the International COPD Genetics Consortium (ICGC) with 13 710 cases and 38 062 controls. Methods that integrated GWAS with eQTL signals including transcriptome-wide association study (TWAS), colocalization and Mendelian randomization-based (SMR) approaches were used to map causality genes, i.e. genes with the strongest evidence of being the functional effector at specific loci. These methods were applied at the genome-wide level and at COPD risk loci derived from the GWAS literature. Replication was performed using lung data from GTEx. We collated 129 non-overlapping risk loci for COPD from the GWAS literature. At the genome-wide scale, 12 new COPD candidate genes/loci were revealed and six replicated in GTEx including CAMK2A, DMPK, MYO15A, TNFRSF10A, BTN3A2 and TRBV30. In addition, we mapped candidate causal genes for 60 out of the 129 GWAS-nominated loci and 23 of them were replicated in GTEx. Mapping candidate causal genes in lung tissue represents an important contribution to the genetics of COPD, enriches our biological interpretation of GWAS findings, and brings us closer to clinical translation of genetic associations.
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